Publications:

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Redefining Hypo- and Hyper-Responding Phenotypes of CFTR Mutants for Understanding and Therapy.

International Journal Of Molecular Sciences

Hillenaar, Tamara T; Beekman, Jeffrey J; van der Sluijs, Peter P; Braakman, Ineke I

Publication Date: 2022-12-02

Variant appearance in text: CFTR: G91R

PubMed Link: 36499495

Variant Present in the following documents:

• ijms-23-15170.pdf

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Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: CFTR: G91R

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3

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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: CFTR: G91R

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3

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Leukocyte adhesion defect: Where do we stand circa 2019?

Genes & Diseases

Das, Jhumki J; Sharma, Avinash A; Jindal, Ankur A; Aggarwal, Vaishali V; Rawat, Amit A

Publication Date: 2020-03

Variant appearance in text: CFTR: G91R

PubMed Link: 32181281

Variant Present in the following documents:

• Main text
• main.pdf

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Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.

Jci Insight

Han, Sangwoo T ST; Rab, Andras A; Pellicore, Matthew J MJ; Davis, Emily F EF; McCague, Allison F AF; Evans, Taylor A TA; Joynt, Anya T AT; Lu, Zhongzhou Z; Cai, Zhiwei Z; Raraigh, Karen S KS; Hong, Jeong S JS; Sheppard, David N DN; Sorscher, Eric J EJ; Cutting, Garry R GR

Publication Date: 2018-07-26

Variant appearance in text: CFTR: G91R

PubMed Link: 30046002

Variant Present in the following documents:

• Main text

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Understanding the Entanglement: Neutrophil Extracellular Traps (NETs) in Cystic Fibrosis.

Frontiers In Cellular And Infection Microbiology

Martínez-Alemán, Saira R SR; Campos-García, Lizbeth L; Palma-Nicolas, José P JP; Hernández-Bello, Romel R; González, Gloria M GM; Sánchez-González, Alejandro A

Publication Date: 2017

Variant appearance in text: CFTR: G91R

PubMed Link: 28428948

Variant Present in the following documents:

• Main text
• fcimb-07-00104.pdf

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Leukocyte Adhesion Deficiency IV. Monocyte Integrin Activation Deficiency in Cystic Fibrosis.

American Journal Of Respiratory And Critical Care Medicine

Fan, Zhichao Z; Ley, Klaus K

Publication Date: 2016-05-15

Variant appearance in text: CFTR: G91R

PubMed Link: 27174474

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CFTR: G91R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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The Transmission Interfaces Contribute Asymmetrically to the Assembly and Activity of Human P-glycoprotein.

The Journal Of Biological Chemistry

Loo, Tip W TW; Clarke, David M DM

Publication Date: 2015-07-03

Variant appearance in text: CFTR: G91R

PubMed Link: 25987565

Variant Present in the following documents:

• Main text
• zbc16954.pdf

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Mechanism-based corrector combination restores ΔF508-CFTR folding and function.

Nature Chemical Biology

Okiyoneda, Tsukasa T; Veit, Guido G; Dekkers, Johanna F JF; Bagdany, Miklos M; Soya, Naoto N; Xu, Haijin H; Roldan, Ariel A; Verkman, Alan S AS; Kurth, Mark M; Simon, Agnes A; Hegedus, Tamas T; Beekman, Jeffrey M JM; Lukacs, Gergely L GL

Publication Date: 2013-07

Variant appearance in text: CFTR: G91R

PubMed Link: 23666117

Variant Present in the following documents:

• Main text

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Mechanisms of CFTR Folding at the Endoplasmic Reticulum.

Frontiers In Pharmacology

Kim, Soo Jung SJ; Skach, William R WR

Publication Date: 2012

Variant appearance in text: CFTR: G91R

PubMed Link: 23248597

Variant Present in the following documents:

• Main text

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Development of CFTR Structure.

Frontiers In Pharmacology

Patrick, Anna E AE; Thomas, Philip J PJ

Publication Date: 2012

Variant appearance in text: CFTR: G91R

PubMed Link: 22973227

Variant Present in the following documents:

• Main text
• fphar-03-00162.pdf

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Alteration of CFTR transmembrane span integration by disease-causing mutations.

Molecular Biology Of The Cell

Patrick, Anna E AE; Karamyshev, Andrey L AL; Millen, Linda L; Thomas, Philip J PJ

Publication Date: 2011-12

Variant appearance in text: CFTR: G91R

PubMed Link: 21998193

Variant Present in the following documents:

• Main text

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Role of Hsc70 binding cycle in CFTR folding and endoplasmic reticulum-associated degradation.

Molecular Biology Of The Cell

Matsumura, Yoshihiro Y; David, Larry L LL; Skach, William R WR

Publication Date: 2011-08-15

Variant appearance in text: CFTR: G91R

PubMed Link: 21697503

Variant Present in the following documents:

• 2797.pdf

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Mechanisms for rescue of correctable folding defects in CFTRDelta F508.

Molecular Biology Of The Cell

Grove, Diane E DE; Rosser, Meredith F N MF; Ren, Hong Yu HY; Naren, Anjaparavanda P AP; Cyr, Douglas M DM

Publication Date: 2009-09

Variant appearance in text: CFTR: G91R

PubMed Link: 19625452

Variant Present in the following documents:

• Main text

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Cooperative assembly and misfolding of CFTR domains in vivo.

Molecular Biology Of The Cell

Du, Kai K; Lukacs, Gergely L GL

Publication Date: 2009-04

Variant appearance in text: CFTR: G91R

PubMed Link: 19176754

Variant Present in the following documents:

• Main text

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: CFTR: G91R

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 4

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Assembly and misassembly of cystic fibrosis transmembrane conductance regulator: folding defects caused by deletion of F508 occur before and after the calnexin-dependent association of membrane spanning domain (MSD) 1 and MSD2.

Molecular Biology Of The Cell

Rosser, Meredith F N MF; Grove, Diane E DE; Chen, Liling L; Cyr, Douglas M DM

Publication Date: 2008-11

Variant appearance in text: CFTR: G91R

PubMed Link: 18716059

Variant Present in the following documents:

• Main text

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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society

Castellani, C C; Cuppens, H H; Macek, M M; Cassiman, J J JJ; Kerem, E E; Durie, P P; Tullis, E E; Assael, B M BM; Bombieri, C C; Brown, A A; Casals, T T; Claustres, M M; Cutting, G R GR; Dequeker, E E; Dodge, J J; Doull, I I; Farrell, P P; Ferec, C C; Girodon, E E; Johannesson, M M; Kerem, B B; Knowles, M M; Munck, A A; Pignatti, P F PF; Radojkovic, D D; Rizzotti, P P; Schwarz, M M; Stuhrmann, M M; Tzetis, M M; Zielenski, J J; Elborn, J S JS

Publication Date: 2008-05

Variant appearance in text: CFTR: G91R

PubMed Link: 18456578

Variant Present in the following documents:

• Main text

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The role of the UPS in cystic fibrosis.

Bmc Biochemistry

Turnbull, Emma L EL; Rosser, Meredith F N MF; Cyr, Douglas M DM

Publication Date: 2007-11-22

Variant appearance in text: CFTR: G91R

PubMed Link: 18047735

Variant Present in the following documents:

• Main text
• 1471-2091-8-S1-S11.pdf

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Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

The Journal Of Molecular Diagnostics : Jmd

Schrijver, Iris I; Oitmaa, Eneli E; Metspalu, Andres A; Gardner, Phyllis P

Publication Date: 2005-08

Variant appearance in text: CFTR: G91R

PubMed Link: 16049310

Variant Present in the following documents:

• Main text

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A foldable CFTR{Delta}F508 biogenic intermediate accumulates upon inhibition of the Hsc70-CHIP E3 ubiquitin ligase.

The Journal Of Cell Biology

Younger, J Michael JM; Ren, Hong-Yu HY; Chen, Liling L; Fan, Chun-Yang CY; Fields, Andrea A; Patterson, Cam C; Cyr, Douglas M DM

Publication Date: 2004-12-20

Variant appearance in text: CFTR: G91R

PubMed Link: 15611333

Variant Present in the following documents:

• 200410065.pdf

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Robot printing of reverse dot blot arrays for human mutation detection.

The Journal Of Molecular Diagnostics : Jmd

Lappin, S S; Cahlik, J J; Gold, B B

Publication Date: 2001-11

Variant appearance in text: CFTR: G91R

PubMed Link: 11687602

Variant Present in the following documents:

• Main text

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